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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2013, Volume 36, Issue 2, pp. 385 - 394
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 08/2016, Volume 375, Issue 6, pp. 545 - 555
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Journal Article
Journal Article
Pediatrics, ISSN 0031-4005, 12/2009, Volume 124, Issue 6, pp. e1228 - e1239
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Journal of Medical Genetics, ISSN 0022-2593, 06/2016, Volume 53, Issue 6, pp. 403 - 418
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